ID   EVC_HUMAN               Reviewed;         992 AA.
AC   P57679;
DT   01-DEC-2000, integrated into UniProtKB/Swiss-Prot.
DT   01-DEC-2000, sequence version 1.
DT   19-JAN-2010, entry version 68.
DE   RecName: Full=Ellis-van Creveld syndrome protein;
DE   AltName: Full=DWF-1;
GN   Name=EVC;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC   Catarrhini; Hominidae; Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA], VARIANT WAD PRO-307, VARIANT EVC GLN-443,
RP   AND VARIANTS PRO-74; HIS-258; SER-403; LYS-449; GLN-576; GLN-760 AND
RP   GLY-953.
RC   TISSUE=Brain, and Heart;
RX   MEDLINE=20164328; PubMed=10700184; DOI=10.1038/73508;
RA   Ruiz-Perez V.L., Ide S.E., Strom T.M., Lorenz B., Wilson D., Woods K.,
RA   King L., Francomano C., Freisinger P., Spranger S., Marino B.,
RA   Dallapiccola B., Wright M., Meitinger T., Polymeropoulos M.H.,
RA   Goodship J.;
RT   "Mutations in a new gene in Ellis-van Creveld syndrome and Weyers
RT   acrodental dysostosis.";
RL   Nat. Genet. 24:283-286(2000).
RN   [2]
RP   ERRATUM.
RA   Ruiz-Perez V.L., Ide S.E., Strom T.M., Lorenz B., Wilson D., Woods K.,
RA   King L., Francomano C., Freisinger P., Spranger S., Marino B.,
RA   Dallapiccola B., Wright M., Meitinger T., Polymeropoulos M.H.,
RA   Goodship J.;
RL   Nat. Genet. 25:125-125(2000).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [MRNA].
RA   Galdzicka M., Damschroder-Williams P., Hirshman H.G., Winfield S.L.,
RA   Simmons A., Lovett M., Martin B.M., Ginns E.I.;
RT   "Candidate gene for Ellis-van Creveld disorder.";
RL   Submitted (FEB-2000) to the EMBL/GenBank/DDBJ databases.
CC   -!- SUBCELLULAR LOCATION: Membrane; Single-pass membrane protein
CC       (Potential).
CC   -!- TISSUE SPECIFICITY: Found in the developing vertebral bodies,
CC       ribs, upper and lower limbs, heart, kidney, lung.
CC   -!- DISEASE: Defects in EVC are a cause of Ellis-van Creveld syndrome
CC       (EVC) [MIM:225500]; also known as chondroectodermal dysplasia. EVC
CC       is an autosomal recessive disorder characterized by the clinical
CC       tetrad of chondrodystrophy, polydactyly, ectodermal dysplasia and
CC       cardiac anomalies. Patients manifest short-limb dwarfism, short
CC       ribs, postaxial polydactyly and dysplastic nails and teeth.
CC       Congenital heart defects, most commonly an atrioventricular septal
CC       defect, are observed in 60% of affected individuals.
CC   -!- DISEASE: Defects in EVC are a cause of acrofacial dysostosis
CC       Weyers type (WAD) [MIM:193530]; also known as Curry-Hall syndrome.
CC       Acrofacial dysostoses are a heterogeneous group of disorders
CC       combining limb defects with facial abnormalities. WAD is an
CC       autosomal dominant disorder characterized by dysplastic nails,
CC       postaxial polydactyly, acrofacial dysostosis, short limbs and
CC       short stature. The phenotype is milder than Ellis-van Creveld
CC       syndrome.
CC   -!- WEB RESOURCE: Name=GeneReviews;
CC       URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/EVC";
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DR   EMBL; AF216184; AAF37216.1; -; mRNA.
DR   EMBL; AF216185; AAF37217.1; -; mRNA.
DR   EMBL; AF239742; AAF44682.1; -; mRNA.
DR   IPI; IPI00027718; -.
DR   RefSeq; NP_714928.1; -.
DR   UniGene; Hs.646899; -.
DR   UniGene; Hs.670028; -.
DR   STRING; P57679; -.
DR   PRIDE; P57679; -.
DR   Ensembl; ENST00000264956; ENSP00000264956; ENSG00000072840; Homo sapiens.
DR   Ensembl; ENST00000382674; ENSP00000372120; ENSG00000072840; Homo sapiens.
DR   GeneID; 2121; -.
DR   KEGG; hsa:2121; -.
DR   UCSC; uc003gil.1; human.
DR   CTD; 2121; -.
DR   GeneCards; GC04P005830; -.
DR   H-InvDB; HIX0004056; -.
DR   HGNC; HGNC:3497; EVC.
DR   HPA; HPA008703; -.
DR   HPA; HPA016046; -.
DR   MIM; 193530; phenotype.
DR   MIM; 225500; phenotype.
DR   MIM; 604831; gene.
DR   Orphanet; 952; Acrofacial dysostosis, Weyers type.
DR   Orphanet; 289; Ellis Van Creveld syndrome.
DR   PharmGKB; PA27911; -.
DR   eggNOG; prNOG06961; -.
DR   HOGENOM; HBG279951; -.
DR   HOVERGEN; P57679; -.
DR   InParanoid; P57679; -.
DR   OMA; ESVYVTS; -.
DR   OrthoDB; EOG9HB15X; -.
DR   PhylomeDB; P57679; -.
DR   NextBio; 8575; -.
DR   ArrayExpress; P57679; -.
DR   Bgee; P57679; -.
DR   CleanEx; HS_EVC; -.
DR   Genevestigator; P57679; -.
DR   GermOnline; ENSG00000072840; Homo sapiens.
DR   GO; GO:0016021; C:integral to membrane; IEA:UniProtKB-SubCell.
DR   GO; GO:0007517; P:muscle organ development; TAS:ProtInc.
PE   1: Evidence at protein level;
KW   Complete proteome; Disease mutation; Dwarfism; Ectodermal dysplasia;
KW   Membrane; Polymorphism; Transmembrane.
FT   CHAIN         1    992       Ellis-van Creveld syndrome protein.
FT                                /FTId=PRO_0000087102.
FT   TRANSMEM     26     48       Potential.
FT   VARIANT      74     74       Q -> P (in dbSNP:rs2291157).
FT                                /FTId=VAR_009942.
FT   VARIANT     114    114       A -> V (in dbSNP:rs16837598).
FT                                /FTId=VAR_033852.
FT   VARIANT     258    258       Y -> H (in dbSNP:rs6414624).
FT                                /FTId=VAR_009943.
FT   VARIANT     307    307       S -> P (in WAD).
FT                                /FTId=VAR_009944.
FT   VARIANT     372    372       T -> M (in dbSNP:rs28483498).
FT                                /FTId=VAR_033853.
FT   VARIANT     403    403       G -> S.
FT                                /FTId=VAR_009945.
FT   VARIANT     443    443       R -> Q (in EVC; dbSNP:rs35953626).
FT                                /FTId=VAR_009946.
FT   VARIANT     449    449       T -> K (in dbSNP:rs2302075).
FT                                /FTId=VAR_009947.
FT   VARIANT     576    576       R -> Q (in dbSNP:rs1383180).
FT                                /FTId=VAR_009948.
FT   VARIANT     760    760       R -> Q (in dbSNP:rs2279252).
FT                                /FTId=VAR_009949.
FT   VARIANT     953    953       D -> G.
FT                                /FTId=VAR_009950.
FT   VARIANT     965    965       Missing.
FT                                /FTId=VAR_009951.
FT   CONFLICT    966    966       Missing (in Ref. 3; AAF44682).
SQ   SEQUENCE   992 AA;  111990 MW;  E3ED42401138B5D4 CRC64;
     MARGGAACKS DARLLLGRDA LRPAPALLAP AVLLGAALGL GLGLWLGCRA GRQRTRHQKD
     DTQNLLKNLE SNAQTPSETG SPSRRRKREV QMSKDKEAVD ECEPPSNSNI TAFALKAKVI
     YPINQKFRPL ADGSSNPSLH ENLKQAVLPH QPVEASPSSS LGSLSQGEKD DCSSSSSVHS
     ATSDDRFLSR TFLRVNAFPE VLACESVDVD LCIYSLHLKD LLHLDTALRQ EKHMMFIQIF
     KMCLLDLLPK KKSDDELYQK ILSKQEKDLE ELEKGLQVKL SNTEMSGAGD SEYITLADVE
     KKEREYSEQL IDNMEAFWKQ MANIQHFLVD QFKCSSSKAR QLMMTLTERM IAAEGLLCDS
     QELQALDALE RTMGRAHMAK VIEFLKLQVQ EETRCRLAAI SHGLELLAGE GKLSGRQKEE
     LLTQQHKAFW QEAERFSREF VQRGKDLVTA SLAHQVEGTA KLTLAQEEEQ RSFLAEAQPT
     ADPEKFLEAF HEVLERQRLM QCDLEEEENV RATEAVVALC QELYFSTVDT FQKFVDALFL
     QTLPGMTGLP PEECDYLRQE VQENAAWQLG KSNRFRRQQW KLFQELLEQD QQVWMEECAL
     SSVLQTHLRE DHEGTIRGVL GRLGGLTEES TRCVLQGHDL LLRSALRRLA LRGNALATLT
     QMRLSGKKHL LQELREQRAL EQGSSQCLDE HQWQLLRALE ARVLEEASRL EEEAQQTRLQ
     LQQRLLAEAQ EVGQLLQQHM ECAIGQALLV HARNAATKSR AKDRDDFKRT LMEAAVESVY
     VTSAGVSRLV QAYYQQIGRI MEDHEERKLQ HLKTLQGERM ENYKLRKKQE LSNPSSGSRT
     AGGAHETSQA VHQRMLSQQK RFLAQFPVHQ QMRLHAQQQQ AGVMDLLEAQ LETQLQEAEQ
     NFISELAALA RVPLAESKLL PAKRGLLEKP LRTKRKKPLP QERGDLGVPN NEDLASGDQT
     SGSLSSKRLS QQESEAGDSG NSKKMLKRRS NL
//